G9R (p.Gly9Arg) variant of LDB3 (LIM domain-binding protein 3)
G9R (p.Gly9Arg) in LDB3 (LIM domain-binding protein 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- NCI-TCGA Cosmic COSV9955
- cosmic curated COSV99555
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.58
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0799